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  • About
  • The Global ETD Search service is a free service for researchers to find electronic theses and dissertations. This service is provided by the Networked Digital Library of Theses and Dissertations.
    Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.
1

Slipped upper femoral epiphysis

Vrettos, Basil Christopher 06 April 2017 (has links)
No description available.
2

Preliminary investigation of thermostable DNA polymerases to reduce PCR amplification artifacts

Chen, Emily 13 June 2020 (has links)
Forensic genotyping uses a multiplex short tandem repeat (STR) assay to amplify deoxyribonucleic acid (DNA) samples. One of the artifacts mostly commonly encountered in forensic DNA analysis is stutter, which are non-specific products from the polymerase chain reaction (PCR) that are typically one repeat unit shorter in length than the allelic amplicon. While stutter peaks are typically no taller than 10% of the parent peak on electropherograms, their peak heights can fall into similar ranges as minor contributor alleles in mixtures, creating a problem of how to distinguish artifacts from true allele peaks in these situations. One way to potentially address this issue is to find a PCR method that produces a much lower amount of stutter than the method currently used, which involves amplifying samples with commercial PCR kits designed for forensic applications. These kits all use some form of Taq DNA polymerase (derived from Thermus aquaticus). In an effort to examine whether the type of enzyme used in an assay affects the resulting stutter rates observed, the existing GlobalFiler™ PCR Amplification Kit (Applied Biosystems) protocol for forensic multiplex STR assays was modified to test different types of enzymes. This was done by amplifying the same DNA sample with GlobalFiler primers and different commercial proofreading enzymes and their accompanying reaction buffer using manufacturer-recommended PCR parameters. The DNA sample originated from a buccal swab that was extracted on the EZ1® Advanced (Qiagen). The DNA solution was quantified using the Quantifiler™ Duo DNA Quantification Kit (Applied Biosystems) on the 7500 Real-Time PCR System (Applied Biosystems). In order to first establish the validity of switching out enzymes in an established protocol, a DNA sample was amplified with the Type-it® Microsatellite Kit (Qiagen), another Taq-based kit that is also marketed for use in multiplex STR assays. After a complete profile was successfully generated, research proceeded with testing various high-fidelity DNA polymerases. Some of the enzymes tested were known to be Pyrococcus-like while others were fused to a DNA-binding domain to enhance processivity. Taq polymerases tend to produce products with 3’adenine-overhangs while proofreading enzymes produce blunt-ends. This change caused a one base pair difference in the resulting amplicon lengths, which was accommodated by manually assigning genotypes after results from fragment analysis by capillary electrophoresis using a 3130 Genetic Analyzer (Applied Biosystems) were interpreted by the GeneMapper™ software (Applied Biosystems). Additional amplification kits tested were: the UCP HiFidelity PCR Kit (Qiagen), Phusion™ Hot Start II High-Fidelity DNA Polymerase (Thermo Scientific), Platinum™ SuperFi™ II DNA Polymerase (Invitrogen), iProof™ High-Fidelity DNA Polymerase (Bio-Rad), Q5® High-Fidelity DNA Polymerase (New England Biolabs), and TruFi™ DNA Polymerase (Azura Genomics). Most of the kits produced profiles exhibiting a high degree of uneven amplification and varying levels of allelic dropout. In addition, all of the kits tested had much shorter peak heights compared to using GlobalFiler. Changing the type of enzyme used in an established protocol was found to be less straightforward than anticipated. Due to the poor quality results obtained in the first pass of trials, a few kits were selected to undergo optimization in the hopes of achieving higher quality results from which further analyses, such as comparing stutter rates, could be more reliably conducted. Both altered reagent amounts (higher enzyme concentration, higher DNA input mass) and different PCR parameters (decreased denaturation temperature, varying annealing temperature, decreased extension temperature, longer extension cycles, and longer final extension stage) were assessed. Only an increase in extension cycling time was found to produce better peak heights while maintaining balanced amplification of most of the targeted loci. Initial samples amplified with the Phusion enzyme exhibited multiple non-specific artifacts that were not stutter. Raising the annealing temperature for that enzyme’s protocol eliminated this issue. Therefore, higher annealing temperatures were pre-emptively used for several of the other enzymes tested. One of the explanations proposed for the uneven amplification observed is the presence of inhibitors in the commercial buffers used affecting downstream capillary electrophoresis. The Q5 High-Fidelity and TruFi DNA polymerases produced the best quality profiles; the UCP HiFidelity PCR Kit had the poorest results. Preliminary results indicated that none of the protocol alterations implemented significantly decreased stutter rates, nor was any one commercial enzyme found to have consistently lower stutter rates than the GlobalFiler kit. Due to the low number of trials carried out, the findings from this study require more replications with a wider variety of DNA polymerases to confirm that the type of enzyme used in an assay does not affect stutter rates.
3

Structure Function Studies Of Biologically Important Simple Repetitive DNA Sequences

Pataskar, Shashank S. 01 1900 (has links)
The recent explosion of DNA sequence information has provided compelling evidence for the following facts. (1) Simple repetitive sequences-microsatellites and minisatellites occur commonly in the human genome and (2) these repetitive DNA sequences could play an important role in the regulation of various genetic processes including modulation of gene expression. These sequences exhibit extensive polymorphism in both length and the composition between species and between organisms of the same species and even cells of the same organism. The repetitive DNA sequences also exhibit structural polymorphism depending on the sequence composition. The functional significance of repetitive DNA is a well-established fact. The work done in many laboratories including ours has conclusively documented the functional role played by repetitive sequences in various cellular processes. Structural studies have established the sequence requirement for various non-B DNA structures and the functional significance of these unusual DNA structures is becoming increasingly clear. The structures that were characterised earlier purely from conformation point of view have aroused interest after the recent realisation that these structures could be formed in vivo when cloned in a supercoiled plasmid. The discovery of novel type of dynamic mutations where intragenic amplifications of trinucleotide repeats is associated with phenotypic changes causing many neurodegenerative disorders has provided the most compelling evidence for the importance of simple repeats in the etiology of these disorders. Secondary structures adopted by these simple repeats is a common causative factor in the mechanism of expansion of these repeats. This realisation prompted many investigations into the relationship between the DNA sequence, structure and molecular basis of dynamic mutation. Many experimental evidences have implicated paranemic DNA structures in various biological processes, especially in the regulation of gene expression. Earlier work done in our laboratory on the structure function relationship of repetitive DNA sequences provided experimental evidence for the role of paranemic DNA structure in the regulation of gene expression. It was demonstrated that intramolecular triplex potential sequences within a gene downregulate its expression in vivo (Sarkar and Brahmachari (1992) Nucleic Acids Res., 20, 5713-5718). Similarly the effect of cruciform structure forming sequences on gene expression was also documented. Sequence specific alterations in DNA structures were studied in our laboratory using a variety of biophysical and biochemical techniques. An intramolecular, antiparallel tetraplex structure was proposed for human telomeric repeat sequences (Balagurumoorthy, et al., (1994) J. Biol. Chem., 269, 21858-21869). The telomeric repeats are not only present at the end of chromosomes but they are also present at many interstitial sites in the human genome. Database search reveals that the human telomeric sequences as well as similar sequences with minor variations are present at many locations in the human genome. Telomeric repeats are GC rich sequences with the G rich strand protruding as a 3' end overhang at the end of chromosomes. When human telomeric repeats are cloned in a supercoiled plasmid, the C rich strand adopts a hairpin like conformation where as the G-rich strand extrudes into a quadruplex structure. However, the biological significance of these structures in vivo still remains to be elucidated completely. The role of a putative tetraplex DNA structure in the insulin gene linked polymorphic region of the human insulin gene in vivo in the regulation of expression of the insulin gene has been suggested. In this context, we have addressed the question whether the telomeric repeats when present within a gene affect its expression in vivol If so, what would be the possible mechanism? An attempt has been made to understand the effect of presence of telomeric repeats within a gene on its expression. The details of these studies have been presented in Chapter 2 of this thesis. Contrary to telomeric repeats which provide stability to the chromosomes, recently expansion of a GC rich dodecamer repeat upstream of cystatin B gene (chromosome 21q) has been shown to be the most common mutation associated with Progressive Myoclonus Epilepsy (EPM1) of Unverricht-Lundberg type. Two to three copies of the repeat (CCCCGCCCCGCG)n are present in normal individuals whereas the affected individuals have 30-75 copies of this repeat. The expression of cystatin B gene is reduced in patients in a cell specific manner. The repeat also shows intergenerational variability. The exact mechanism of expansion of this repeat is not known. In the case of trinucleotide repeat expansion, it is shown that the structure adopted by the repeat plays an important role in the mechanism of expansion and that some of the secondary structures adopted by trinucleotide repeats could be inherently mutagenic conformations. In order to understand the mechanism of expansion EPM1 dodecamer repeat, the work reported in this thesis was carried out with the following objectives. • To understand the structure of G rich and C-rich strands of EPM1 repeat. • To understand the variations in the structure with the increase in the length and its possible implications in the mechanism of expansion of EPM 1 repeat. Studies aimed with these objectives are presented in chapters 3, 4 and 5 of the thesis. Chapter 1 provides a general introduction to repetitive DNA, the various structures adopted by repetitive DNA sequences in the genome, the functional significance of the various simple repetitive DNA sequences in the genome has been presented. An account of trinucleotide repeat expansion and associated disorders, non-trinucleotide repeat expansions and associated disorders has been presented. The various non B-DNA structures adopted these repeats and their implications in the mechanism of expansion have been discussed. Chapter 2 describes in frame cloning of human telomeric repeats d(G3T2A)3G3 in the N-terminal region of β-galactosidase gene. The effect of such repeat Sequences on transcription elongation in vivo has been studied using E.coli as a model system. The 3.5 copies of human telomeric repeat sequences were cloned in the sense strand of plasmid pBluescriptllSK+ so as to create plasmid clone pSBQ8 and in the template strand of plasmid pBluescriptHKS+ so as to create clone pSBRQ8. One dimensional chloroquine gel shift assay indicated presence of an unwound structure in pSBQ8 and pSBRQ8. β-galactosidase activity assay suggested downregulation of the gene in vivo. In the case of plasmid pSBQ8 the difference in β-galactosidase activity was approximately 6 fold as compared to the parent plasmid pBluescriptIISK+ whereas in the case of pSBRQ8 the difference in β-galactosidase activity was approximately 8 fold as compared to the control pBluescriptIIKS+. The analysis of β-galactosidase transcript showed that full length transcript was formed in the case of pSBQ8. Full length transcript was not formed in the case of pSBRQ8. We propose that in the case of pSBQ8 the gene expression is inhibited in steps subsequent to transcription elongation. In the case of pSBRQ8, we propose that quadruplex structure may be formed by the template strand at the DNA level thereby blocking transcription elongation step. Chapter 3 describes studies aimed at understanding the structure of G-rich strand (referred to as G strand) of Progressive Myoclonus Epilepsy (EPM1) repeat. The sequence of the G strand of dodecamer EPM1 repeat is d(GGGGCGGGGCGC)n. Oligoucleotides containing one (12mer), two (24mer) and three(36mer) were synthesised. These oligonucleotides are referred to as dG12, dG24 and dG36 respectively. Structural studies were carried out using CD spectroscopy, UV melting, non-denaturing gel electrophoresis and chemical and enzymatic probing. The G strand oligonucleotides showed enhanced gel elecrophoretic mobility in the presence of monovalent cations KCl and NaCl. Oligonucleotide dG12 also showed retarded species on non-denaturing gel in the presence of 70mM KCl indicating intermolecular associations. Oligonucleotides dG24 and dG36 predominantly formed intramolecular structures which migrated anomalously faster than the expected size. The CD spectrum for dG12 showed an intense positive band at 260nm and a negative band at 240nm in the presence of KCl indicative of an intermolecular, parallel G quartet structure. The CD spectra of dG24 and dG36 showed 260nm positive peak, 240nm negative peak along with a positive band around 290nm. This is indicative of folded back structure. These findings support the results of non-denaturing gel electrophoresis of G strand oligonucleotides. The UV melting profiles suggested increase in the stability with the increase in the length. These structures were further characterised by PI nuclease and chemical probing using DMS and DEPC. The structural studies with G-rich strand of EPM1 dodecamer repeat showed that this repeat motif adopts intramolecularly folded structures with increase in the length of the repeat thereby favouring slippage during replication. Chapter 4 deals with the studies aimed at understanding the structure at acidic pH of C-rich strand (referred to as C strand) of Progressive Myoclonus Epilepsy (EPM1) repeat. The sequence of the C strand of dodecamer EPM1 repeat is d(CCCCGCCCCGCG)n. The C rich oligonucleotides are known to form a four stranded structure called i-motif at acidic pH involving intercalated base pairs. The i-motif consists of two parallel stranded, base paired duplexes are arranged in an antiparallel orientation. Since, the base pairs of one base paired duplex intercalate into those of the other duplex, the structure is called as i-motif. We have investigated structure of C strand of EPM1 repeat by circular dichroism (CD), native polyacrylamide gel electrophoresis and UV melting. Oligonucleotide dC12 showed two bands of which the major band was retarded on the native gel (pH 5.0) at low temperature suggesting that dC12 predominantly formed intermolecular structure, Oligonucleotides dC24 and dC36 migrated anomalously faster than the expected size indicating formation of compact, intramolecularly folded structures. Circular dichroism studies indicate that, all the oligonucleotides displayed an intense positive band near 285nm, a negative band around 260nm with a cross over at 270nm, This is a characteristic CD signature for an i-motif structure and reflects the presence of secondary structure due to formation of hydrogen bonded pairs between protonated cytosines. All the C strand oligonucleotides showed hyperchromism at 265nm, which is an isobestic wavelength for C protonation. Studies described in this chapter suggest an intramolecular i-motif structure for dC24 and dC36 and an intermolecular i-motif for oligonucleotide dC12. In addition, it was interesting to note that inspite of the presence of G residues, the stretch of C residues could adopt i-motif structure. Although these structures are formed at an acidic pH, it is indicative of formation of possible intramolecularly folded structure. Many reports have suggested the possibility of cytosine rich sequences adopting i-motif structure even at neutral pH. In order to test this possibility, structural studies were carried out on the C strand EPM1 oligonucleotides at pH 7.2 in the presence of 70mM NaCl. These studies have been described in Chapter 5. The investigations were done using CD spectroscopy, UV melting, native polyacrylamide gel electrophoresis, and chemical probing using hydroxylamine and PI nuclease. These studies indicate that all the C strand oligonucleotides form intramolecular, hairpin structure at physiological pH. All the three C strand oligonucleotides migrated anomalously faster on the native gel indicating the presence of a compact structure. The CD spectra at pH 7.2 showed a blue shift as compared to those at pH 5.0. This indicated absence of base pairs. The hydroxylamine chemical probing suggested presence of G-C Watson-Crick base pairs. The loop residues of the folded back hairpin structures were probed with PI nuclease. The C strand oligonucleotides showed possibility of formation of multiple hairpin structures with the increase in the length of the repeat. The propensity to form hairpin structures suggests a possibility of formation of slip loop structures during the replication process thereby promoting expansion of this repeat. Formation of folded back hairpin like structures is significant in terms of mechanism of expansion of this repeat. Chapter 6 is devoted to concluding remarks highlighting the significance of the experimental results presented in this thesis and their possible biological implications in the light of contemporary research.
4

Caractérisation, production et diffusion des imitations de sigillée d'Argonne dans le Diocèse des Gaules durant l'Antiquité tardive / Characterization, production and distribution of local imitations of Argonne red slipped ware in the Diocese of Gaul during the late Antiquity

Delbey, Thomas 22 May 2018 (has links)
A partir de la seconde moitié du IVe siècle, les productions de sigillée de l’Argonne, région naturelle située entre Châlons-en-Champagne et Verdun, sont diffusées dans le Diocèse des Gaules et plus largement dans l’ouest de l’Europe. Ce type de céramique, caractérisée par la présence d’un décor en bandeau imprimé à l’aide d’une molette, a longtemps été considéré comme produit uniquement dans les ateliers argonnais. Cependant, les études de ces dernières décennies sur le sujet ont permis d'avancer l'hypothèse de l'existence de plusieurs productions locales imitant les formes et les décors de ces sigillées. Grâce aux méthodes d’analyses archéométriques utilisées (analyses chimiques par fluorescence X, observations pétrographiques, analyses minéralogiques par diffraction des rayons X), l’existence de plusieurs groupes de production est validée. L’adéquation entre le classement statistique des données géochimiques et les hypothèses archéologiques principalement basées sur l’identification des décors à la molette confirme la pertinence du partitionnement obtenu. Ces résultats reflètent la diversité des argiles utilisées pour la fabrication de ces sigillées hors de la région argonnaise (argiles calcaires, argiles peu calcaires et argiles kaolinitiques) et les capacités d’adaptation des artisans aux ressources géologiques disponibles. Les observations pétrographiques et minéralogiques attestent également de l’utilisation de fours à sigillées et des fours à flammes nues (parfois conjointement dans un même atelier) par les potiers. Cette caractérisation met en lumière un phénomène d’essaimage d’ateliers, généralement de taille modeste, qui produisent et distribuent ces sigillées décorées à la molette sur de courtes distances. / From the second half of the 4th century, the East Gaulish red-slipped ware of Argonne, an area located between Châlons-en-Champagne and Verdun, are widely diffused in the Diocese of Gaul and in the west of Europe. This kind of ceramic, characterized by a stringcrouse decoration printed using a roller, has long been considered as only produced in the Argonne’s workshops. However, the studies of these last decades has made it possible to came up with a new theory that suggest the existence of several local productions imitating the forms and the decorations of these sigillata. Using differents methods of archaeometric analysis (chemical analyses by x-ray fluorescence, petrographic observations, mineralogical analyses by x-ray diffraction), the existence of several groups of production is validated. The adequacy between the statistical clustering of the geochemical data and the archaeological assumptions mainly based on the identification of the roller-stamped decorations confirms the relevance of the partitioning obtained. These results reflect the diversity of the clays used for the manufacturing of these red-slipped ware outside of the Argonne area (calcareous clay, non calcareous clay, kaolinitic clay) and the craftsmen’s capacities to adapt to the geological ressources available. The petrographic and mineralogical observations also attest the use of sigillata kilns and updraft kilns by the potters (sometimes both in the same workshop). This characterization highlight a phenomenon of workshops’s swarming, generally of modest size, which produce and distribute these roller-stamped red-slipped ware on short distances.
5

Abnormalities in the Growth and Development of the Proximal Femur: Comparing Ancient to Modern Populations and Their Incidences of Slipped Capital Femoral Epiphysis and Cam Deformity

Moats, Allison R. 16 May 2014 (has links)
No description available.
6

Função abdutora do quadril após a osteotomia basocervical e cervicoplastia no escorregamento epifisário proximal do fêmur / Hip abductor function after basicervical osteotomy and osteochondroplasty in slipped capital femoral epiphysis

Angelico, Ana Cecilia Capoani 13 September 2017 (has links)
O escorregamento epifisário proximal do fêmur (EEPF) é a afecção do quadril mais comum na adolescência e se caracteriza pela excentricidade da epífise em relação à metáfise. Deformidades anatômicas residuais e efeitos secundários no mecanismo abdutor podem estar associados à perda de força abdutora. Objetivamos avaliar a função da musculatura abdutora do quadril após tratamento cirúrgico com osteotomia femoral basocervical e cervicoplastia e comparar os resultados com indivíduos saudáveis. Vinte e quatro pacientes com EEPF moderado ou grave foram submetidos à osteotomia femoral basocervical e cervicoplastia entre 2012 e 2015, e foram avaliados prospectivamente com seguimento mínimo de um ano (idade média 14,9 ± 1,6 anos). O grupo controle foi composto por 15 indivíduos saudáveis sem sintomas no quadril (16,5 ± 2,5 anos). Avaliamos a amplitude de abdução passiva dos quadris, força concêntrica dos músculos abdutores do quadril por meio de dinamometria isocinética a 60°/s e a 120°/s, teste de Trendelenburg, e a pontuação dos questionários Harris Hip Score (HHS) e 12-Item Short-Form Health Survey (SF-12). Um subgrupo de sete pacientes foi submetido à avaliação longitudinal aos seis, 12 e 24 meses de pós-operatório. No seguimento final, comparamos a função abdutora dos quadris com escorregamentos moderados e graves submetidos à osteotomia basocervical e cervicoplastia, com escorregamentos contralaterais mais leves, submetidos à fixação in situ, quadris contralaterais sem EEPF, e grupo controle. No subgrupo avaliado longitudinalmente, houve melhora significativa na força muscular abdutora dos quadris durante os dois anos de seguimento (60º/s, p=0,048; 120º/s, p=0,001). O seguimento final médio de todos os pacientes foi de 1,6 ± 0,6 anos. Quadris com EEPF apresentaram a média de pico de torque abdutor diminuída quando comparados aos quadris contralaterais sem escorregamento (60º/s, p=0,004; 120º/s, p<0,001) e aos quadris dos indivíduos controles (60º/s, p<0,001; 120º/s, p<0,001). Após a osteotomia basocervical e cervicoplatia, os quadris apresentaram média de pico de torque abdutor (60°/s, p=0,63; 120º/s, p=0,99) e amplitude de abdução passiva (p=0,5) semelhante aos quadris fixados in situ. Houve correlação positiva significativa entre médias de pico de torque abdutor e a amplitude de abdução passiva do quadril (coeficiente de Spearman, 0,36; p<0,001). O sinal de Trendelenburg foi ausente em 91,6% dos pacientes no tempo final de seguimento. As médias das pontuações dos questionários dos pacientes no seguimento final foram de 94.8 ± 7.3 para o HHS; 52.6 ± 6.8 e 57.6 ± 4.6 para os componentes físico e mental do SF-12, respectivamente. Concluímos que o restabelecimento de força de mecanismo abdutor é progressivo nos dois anos após osteotomia basocervical e cervicoplastia, porém a força não foi restabelecida aos níveis normais. Um ano não foi suficiente para recuperação da força abdutora. Os resultados da osteotomia basocervical realizada em quadris com EEPF moderado e grave foram comparáveis aos resultados de quadris com desvio inicial significativamente menores submetidos à fixação in situ. / Slipped capital femoral epiphysis (SCFE) is a common hip disorder in adolescence and is characterized by the eccentricity of the epiphysis in relation to the metaphysis. The condition is associated with loss of abductor strength as a consequence of residual anatomical deformities and secondary effects in the abductor mechanism. We aimed to evaluate the abductor muscle function after the surgical treatment with basicervical femoral osteotomy and head-neck osteochondroplasty, comparing with healthy control individuals. Twenty-four patients with moderate or severe SCFE underwent basocervical femoral osteotomy and osteochondroplasty between 2012 and 2015, and were prospectively evaluated with a minimum follow-up of one year (mean age: 14.9 ± 1.6 years). The control group consisted of 15 individuals without hip symptoms (16.5 ± 2.5 years). We evaluated the passive range of hip abduction, concentric strength of the hip abductor muscles by means of isokinetic dynamometry at 60°/s and 120°/s, Trendelenburg test, Harris Hip Score (HHS) and 12-item short-form health survey (SF-12). A subset of seven patients underwent to longitudinal evaluation at six, 12 and 24 postoperative months. At the final follow-up, we compared the abductor function of the hips with moderate and severe slips submitted to basocervical osteotomy and cervicoplasty, with less severe contralateral slips submitted to in situ fixation, contralateral hips without SCFE, and control group. The subgroup assessed longitudinally had a significant improvement in the abductor muscular strength of the hips during two years of follow-up (60º/s, p = 0.048, 120º/s, p = 0.001). The mean final follow-up of all patients was 1.6 ± 0.6 years. The mean peak abductor torque was decreased in hips with SCFE when compared to the contralateral non-slip side (60º/s, p = 0.004; 120º/s, p <0.001); and control individuals (60º/s, p<0.001; 120º/s, p<0.001). After a basicervical osteotomy and osteochondroplasty, hips had a mean abductor torque (60º/s, p=0.63; 120º/s, p=0.99) and range of abduction (p=0.5) similar to hips pinned in situ. Abduction strength had significant positive correlation with the passive range of abduction (Spearman\'s coefficient, 0.36; p<0.001).The Trendelenburg signal was absent in 91.6% of the patients at the final follow-up. The mean HHS at the final follow-up was 94.8 ± 7.3; and the physical and mental components of the SF-12 were 52.6 ± 6.8 and 57.6 ± 4.6. We conclude that the restoration of abductor strength is progressive in two years following basicervical osteotomy and osteochondroplasty. One year was not enough for the restoration of the abductor strength. The outcomes of the basicervical osteotomy performed in hips with moderate and severe SCFE were comparable to in situ fixation performed in much less severe slips.
7

Função abdutora do quadril após a osteotomia basocervical e cervicoplastia no escorregamento epifisário proximal do fêmur / Hip abductor function after basicervical osteotomy and osteochondroplasty in slipped capital femoral epiphysis

Ana Cecilia Capoani Angelico 13 September 2017 (has links)
O escorregamento epifisário proximal do fêmur (EEPF) é a afecção do quadril mais comum na adolescência e se caracteriza pela excentricidade da epífise em relação à metáfise. Deformidades anatômicas residuais e efeitos secundários no mecanismo abdutor podem estar associados à perda de força abdutora. Objetivamos avaliar a função da musculatura abdutora do quadril após tratamento cirúrgico com osteotomia femoral basocervical e cervicoplastia e comparar os resultados com indivíduos saudáveis. Vinte e quatro pacientes com EEPF moderado ou grave foram submetidos à osteotomia femoral basocervical e cervicoplastia entre 2012 e 2015, e foram avaliados prospectivamente com seguimento mínimo de um ano (idade média 14,9 ± 1,6 anos). O grupo controle foi composto por 15 indivíduos saudáveis sem sintomas no quadril (16,5 ± 2,5 anos). Avaliamos a amplitude de abdução passiva dos quadris, força concêntrica dos músculos abdutores do quadril por meio de dinamometria isocinética a 60°/s e a 120°/s, teste de Trendelenburg, e a pontuação dos questionários Harris Hip Score (HHS) e 12-Item Short-Form Health Survey (SF-12). Um subgrupo de sete pacientes foi submetido à avaliação longitudinal aos seis, 12 e 24 meses de pós-operatório. No seguimento final, comparamos a função abdutora dos quadris com escorregamentos moderados e graves submetidos à osteotomia basocervical e cervicoplastia, com escorregamentos contralaterais mais leves, submetidos à fixação in situ, quadris contralaterais sem EEPF, e grupo controle. No subgrupo avaliado longitudinalmente, houve melhora significativa na força muscular abdutora dos quadris durante os dois anos de seguimento (60º/s, p=0,048; 120º/s, p=0,001). O seguimento final médio de todos os pacientes foi de 1,6 ± 0,6 anos. Quadris com EEPF apresentaram a média de pico de torque abdutor diminuída quando comparados aos quadris contralaterais sem escorregamento (60º/s, p=0,004; 120º/s, p<0,001) e aos quadris dos indivíduos controles (60º/s, p<0,001; 120º/s, p<0,001). Após a osteotomia basocervical e cervicoplatia, os quadris apresentaram média de pico de torque abdutor (60°/s, p=0,63; 120º/s, p=0,99) e amplitude de abdução passiva (p=0,5) semelhante aos quadris fixados in situ. Houve correlação positiva significativa entre médias de pico de torque abdutor e a amplitude de abdução passiva do quadril (coeficiente de Spearman, 0,36; p<0,001). O sinal de Trendelenburg foi ausente em 91,6% dos pacientes no tempo final de seguimento. As médias das pontuações dos questionários dos pacientes no seguimento final foram de 94.8 ± 7.3 para o HHS; 52.6 ± 6.8 e 57.6 ± 4.6 para os componentes físico e mental do SF-12, respectivamente. Concluímos que o restabelecimento de força de mecanismo abdutor é progressivo nos dois anos após osteotomia basocervical e cervicoplastia, porém a força não foi restabelecida aos níveis normais. Um ano não foi suficiente para recuperação da força abdutora. Os resultados da osteotomia basocervical realizada em quadris com EEPF moderado e grave foram comparáveis aos resultados de quadris com desvio inicial significativamente menores submetidos à fixação in situ. / Slipped capital femoral epiphysis (SCFE) is a common hip disorder in adolescence and is characterized by the eccentricity of the epiphysis in relation to the metaphysis. The condition is associated with loss of abductor strength as a consequence of residual anatomical deformities and secondary effects in the abductor mechanism. We aimed to evaluate the abductor muscle function after the surgical treatment with basicervical femoral osteotomy and head-neck osteochondroplasty, comparing with healthy control individuals. Twenty-four patients with moderate or severe SCFE underwent basocervical femoral osteotomy and osteochondroplasty between 2012 and 2015, and were prospectively evaluated with a minimum follow-up of one year (mean age: 14.9 ± 1.6 years). The control group consisted of 15 individuals without hip symptoms (16.5 ± 2.5 years). We evaluated the passive range of hip abduction, concentric strength of the hip abductor muscles by means of isokinetic dynamometry at 60°/s and 120°/s, Trendelenburg test, Harris Hip Score (HHS) and 12-item short-form health survey (SF-12). A subset of seven patients underwent to longitudinal evaluation at six, 12 and 24 postoperative months. At the final follow-up, we compared the abductor function of the hips with moderate and severe slips submitted to basocervical osteotomy and cervicoplasty, with less severe contralateral slips submitted to in situ fixation, contralateral hips without SCFE, and control group. The subgroup assessed longitudinally had a significant improvement in the abductor muscular strength of the hips during two years of follow-up (60º/s, p = 0.048, 120º/s, p = 0.001). The mean final follow-up of all patients was 1.6 ± 0.6 years. The mean peak abductor torque was decreased in hips with SCFE when compared to the contralateral non-slip side (60º/s, p = 0.004; 120º/s, p <0.001); and control individuals (60º/s, p<0.001; 120º/s, p<0.001). After a basicervical osteotomy and osteochondroplasty, hips had a mean abductor torque (60º/s, p=0.63; 120º/s, p=0.99) and range of abduction (p=0.5) similar to hips pinned in situ. Abduction strength had significant positive correlation with the passive range of abduction (Spearman\'s coefficient, 0.36; p<0.001).The Trendelenburg signal was absent in 91.6% of the patients at the final follow-up. The mean HHS at the final follow-up was 94.8 ± 7.3; and the physical and mental components of the SF-12 were 52.6 ± 6.8 and 57.6 ± 4.6. We conclude that the restoration of abductor strength is progressive in two years following basicervical osteotomy and osteochondroplasty. One year was not enough for the restoration of the abductor strength. The outcomes of the basicervical osteotomy performed in hips with moderate and severe SCFE were comparable to in situ fixation performed in much less severe slips.

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